Rubinstein-Taybi syndrome(redirected from Broad Thumb-Hallux syndrome)
Ru·bin·stein-Tay·bi syn·drome(rū'bĭn-stīn tā'bē),
mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set ears, high arched palate, and cardiac anomaly; a submicroscopic chromosomal defect may be causative, but evidence suggests that this syndrome is due to mutation in the gene encoding transcriptional coactivator CREB-binding protein on chromosome 16p.
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CREBBPA gene on chromosome 16p13.3 that encodes a ubiquitously expressed protein involved in the transcriptional coactivation of various transcription factors. CREBBP acts as a scaffold to stabilise additional protein interactions with the transcription complex; it has intrinsic histone acetyltransferase activity, and acetylates both histone and non-histone proteins.
CREBBP mutations cause Rubinstein-Taybi syndrome (RTS); chromosomal translocations of CREBBP are associated with acute myeloid leukaemia.
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Rubinstein,Jack Herbert, U.S. child psychiatrist and pediatrician, 1925–.
Rubinstein-Taybi syndrome - mental retardation, facial deformities, and cardiac anomaly.
Taybi,Hooshang, U.S. pediatrician and radiologist, 1919–.
Rubinstein-Taybi syndrome - see under Rubinstein
Medical Eponyms © Farlex 2012